Guidelines for the Multidisciplinary Diagnosis and Treatment of Neurofibromatosis Type 1 (2023 Version) Multidisciplinary Diagnosis and Treatment Collaboration Group for Neurofibromatosis Type 1 of China Alliance for Rare Diseases

Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary neoplastic disease caused by mutations in the NF1 gene. Features of the disorder typically appear in early childhood. The clinical phenotypes of the patients are diverse but neurofibroma is the main feature. Patients with NF1 also suffer from multi-system involvement and have high risk of malignant tumor. NF1 poses significant challenges for diagnosis, treatment, follow-up and patients management. Therefore, it is imperative to develop a multidisciplinary collaborative diagnosis and treatment protocol. Under the leadership of the China Alliance for Rare Diseases, a multidisciplinary diagnosis and treatment collaborative team for NF1 has been formed and has developed the guideline. This guideline intends to lift the diagnosis and treatment level for NF1 and to provide a standardized treatment protocol for NF1 patients in China.